Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondria... See more...

Aliases for CFAP410 Gene

Aliases for CFAP410 Gene

  • Cilia And Flagella Associated Protein 410 2 3 5
  • LRRC76 2 3 4
  • Cilia- And Flagella-Associated Protein 410 3 4
  • Leucine-Rich Repeat-Containing Protein 76 3 4
  • Leucine Rich Repeat Containing 76 2 3
  • C21orf-HUMF09G8.5 3 4
  • C21orf2 3 4
  • YF5/A2 3 4
  • Nuclear Encoded Mitochondrial Protein C21orf2 3
  • Nuclear Encoded Mitochondrial Protein 2
  • Chromosome 21 Open Reading Frame 2 2
  • Protein C21orf2 3
  • CFAP410 5
  • SMDAX 3
  • RDMS 3
  • YF5 2
  • A2 2

External Ids for CFAP410 Gene

Previous HGNC Symbols for CFAP410 Gene

  • C21orf2

Summaries for CFAP410 Gene

Entrez Gene Summary for CFAP410 Gene

  • Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]

GeneCards Summary for CFAP410 Gene

CFAP410 (Cilia And Flagella Associated Protein 410) is a Protein Coding gene. Diseases associated with CFAP410 include Retinal Dystrophy With Or Without Macular Staphyloma and Spondylometaphyseal Dysplasia, Axial.

UniProtKB/Swiss-Prot Summary for CFAP410 Gene

  • Plays a role in cilia formation and/or maintenance (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987). Involved in DNA damage repair (PubMed:26290490).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFAP410 Gene

Genomics for CFAP410 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CFAP410 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFAP410 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFAP410

Genomic Locations for CFAP410 Gene

Genomic Locations for CFAP410 Gene
chr21:44,328,944-44,339,417
(GRCh38/hg38)
Size:
10,474 bases
Orientation:
Minus strand
chr21:45,748,827-45,759,285
(GRCh37/hg19)
Size:
10,459 bases
Orientation:
Minus strand

Genomic View for CFAP410 Gene

Genes around CFAP410 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP410 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP410 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP410 Gene

Proteins for CFAP410 Gene

  • Protein details for CFAP410 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43822-CF410_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 410
    Protein Accession:
    O43822
    Secondary Accessions:
    • A8MPS9
    • O14993
    • Q8N5X6
    • Q99837
    • Q99838

    Protein attributes for CFAP410 Gene

    Size:
    256 amino acids
    Molecular mass:
    28340 Da
    Quaternary structure:
    • Found in a complex with CFAP410, NEK1 and SPATA7 (PubMed:26167768). Interacts with NEK1 (PubMed:26290490, PubMed:26167768).

    Alternative splice isoforms for CFAP410 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP410 Gene

Post-translational modifications for CFAP410 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CFAP410 Gene

Domains & Families for CFAP410 Gene

Gene Families for CFAP410 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CFAP410 Gene

InterPro:
Blocks:
  • Leucine-rich repeat signature
  • Leucine-rich-associated
ProtoNet:

Suggested Antigen Peptide Sequences for CFAP410 Gene

GenScript: Design optimal peptide antigens:
  • YF5/A2 (CU002_HUMAN)
  • Chromosome 21 open reading frame 2, isoform CRA_a (D3DSL5_HUMAN)
genes like me logo Genes that share domains with CFAP410: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CFAP410 Gene

Function for CFAP410 Gene

Molecular function for CFAP410 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in cilia formation and/or maintenance (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987). Involved in DNA damage repair (PubMed:26290490).

Phenotypes From GWAS Catalog for CFAP410 Gene

Gene Ontology (GO) - Molecular Function for CFAP410 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CFAP410: view
genes like me logo Genes that share phenotypes with CFAP410: view

Human Phenotype Ontology for CFAP410 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CFAP410 Gene

MGI Knock Outs for CFAP410:
  • Cfap410 Cfap410<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP410

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CFAP410 Gene

Localization for CFAP410 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP410 Gene

Mitochondrion. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium, photoreceptor outer segment. Cytoplasm. Note=Colocalizes with NEK1 and SPATA7 at the basal body. {ECO:0000269 PubMed:26167768}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CFAP410 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
mitochondrion 5
cytosol 5
nucleus 4
extracellular 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Mitochondria (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CFAP410 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA,IDA 27548899
GO:0005737 cytoplasm IEA,IDA 21834987
GO:0005739 mitochondrion IEA,IDA 9325172
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CFAP410: view

Pathways & Interactions for CFAP410 Gene

PathCards logo

SuperPathways for CFAP410 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CFAP410 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007010 cytoskeleton organization IMP 21834987
GO:0008360 regulation of cell shape IMP 21834987
GO:0030030 cell projection organization IEA --
GO:0042769 DNA damage response, detection of DNA damage IDA 26290490
genes like me logo Genes that share ontologies with CFAP410: view

No data available for Pathways by source and SIGNOR curated interactions for CFAP410 Gene

Drugs & Compounds for CFAP410 Gene

No Compound Related Data Available

Transcripts for CFAP410 Gene

mRNA/cDNA for CFAP410 Gene

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP410

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP410 Gene

No ASD Table

Relevant External Links for CFAP410 Gene

GeneLoc Exon Structure for
CFAP410

Expression for CFAP410 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFAP410

SOURCE GeneReport for Unigene cluster for CFAP410 Gene:

Hs.517331

mRNA Expression by UniProt/SwissProt for CFAP410 Gene:

O43822-CF410_HUMAN
Tissue specificity: Widely expressed (PubMed:26974433, PubMed:9325172). Expressed in the retina (PubMed:26294103).

Evidence on tissue expression from TISSUES for CFAP410 Gene

  • Pancreas(4.3)
  • Intestine(4.3)
  • Lung(4.2)
  • Nervous system(3.4)
  • Skin(2.5)
  • Eye(2.1)
  • Muscle(2.1)

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFAP410 Gene

Orthologs for CFAP410 Gene

This gene was present in the common ancestor of animals.

Orthologs for CFAP410 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C21H21orf2 30
  • 99.35 (n)
C21orf2 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C31H21orf2 30
  • 82.87 (n)
C21orf2 31
  • 55 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C1H21orf2 30
  • 80.39 (n)
C1H21ORF2 31
  • 74 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia 1810043G02Rik 30 31
  • 79.38 (n)
OneToOne
Cfap410 17
Rat
(Rattus norvegicus)
Mammalia RGD1309594 30
  • 78.31 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia C21orf2 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C9H21ORF2 30 31
  • 68.94 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C21orf2 31
  • 50 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c21orf2 30
  • 54.65 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100537391 30
  • 62.87 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG14995 31
  • 24 (a)
OneToMany
CG15208 31
  • 23 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F09G8.5 31
  • 19 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9543 31
  • 31 (a)
OneToOne
Species where no ortholog for CFAP410 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CFAP410 Gene

ENSEMBL:
Gene Tree for CFAP410 (if available)
TreeFam:
Gene Tree for CFAP410 (if available)

Paralogs for CFAP410 Gene

No data available for Paralogs for CFAP410 Gene

Variants for CFAP410 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFAP410 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
715202 Likely Benign: not provided 44,330,204(-) G/A SYNONYMOUS_VARIANT
716898 Benign: not provided 44,330,229(-) C/T MISSENSE_VARIANT
723013 Likely Benign: not provided 44,331,883(-) C/T MISSENSE_VARIANT
723473 Benign: not provided 44,331,928(-) C/T MISSENSE_VARIANT
737140 Likely Benign: not provided 44,330,324(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CFAP410 Gene

Structural Variations from Database of Genomic Variants (DGV) for CFAP410 Gene

Variant ID Type Subtype PubMed ID
esv1005686 CNV deletion 20482838
esv1476049 CNV deletion 17803354
esv2723638 CNV deletion 23290073
esv2723642 CNV deletion 23290073
esv2723643 CNV deletion 23290073
esv33817 CNV loss 17666407
esv3647130 CNV gain 21293372
nsv1058359 CNV gain 25217958
nsv1130786 CNV deletion 24896259
nsv509800 CNV insertion 20534489
nsv587740 CNV loss 21841781
nsv587779 CNV loss 21841781
nsv587780 CNV loss 21841781
nsv828907 CNV gain 20364138
nsv828909 CNV gain 20364138
nsv953646 CNV deletion 24416366

Variation tolerance for CFAP410 Gene

Residual Variation Intolerance Score: 95.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.69; 66.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFAP410 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP410

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP410 Gene

Disorders for CFAP410 Gene

MalaCards: The human disease database

(21) MalaCards diseases for CFAP410 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CF410_HUMAN
  • Retinal dystrophy with or without macular staphyloma (RDMS) [MIM:617547]: An ocular disorder characterized by decreased vision which worsen over time, and dystrophic changes in the retina, such as retinal pigment epithelium mottling and vessel narrowing. Macular staphyloma, without high myopia, is present in some patients. {ECO:0000269 PubMed:26294103, ECO:0000269 PubMed:27548899}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spondylometaphyseal dysplasia, axial (SMDAX) [MIM:602271]: A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDAX is characterized by metaphyseal changes of truncal-juxtatruncal bones, including the proximal femora. Main clinical features are postnatal growth failure, rhizomelic short stature in early childhood evolving into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and function rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on fundoscopic examination and cone-rod dystrophy on electroretinogram. The radiological hallmarks include short ribs with flared, cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. {ECO:0000269 PubMed:26167768, ECO:0000269 PubMed:26974433, ECO:0000269 PubMed:27548899, ECO:0000269 PubMed:28422394}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with CFAP410: view

No data available for Genatlas for CFAP410 Gene

Publications for CFAP410 Gene

  1. Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy. (PMID: 27548899) Suga A … Iwata T (Investigative ophthalmology & visual science 2016) 2 3 4
  2. Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. (PMID: 26974433) Wang Z … Ikegawa S (PloS one 2016) 2 3 4
  3. The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair. (PMID: 26290490) Fang X … Zhang P (Acta biochimica et biophysica Sinica 2015) 2 3 4
  4. Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis. (PMID: 9465297) Scott HS … Antonarakis SE (Genomics 1998) 2 3 4
  5. Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum. (PMID: 28422394) McInerney-Leo AM … Duncan EL (American journal of medical genetics. Part A 2017) 3 4

Products for CFAP410 Gene

  • Biorbyt antibodies for CFAP410

Sources for CFAP410 Gene